Rare Diseases under letter "I"
Ia glycogenosis ↗ Iatrogenic botulism ↗ Iatrogenic Cushing syndrome ↗ Ib glycogenosis ↗ IBIDS syndrome ↗ IBM2 ↗ IBM3 ↗ IBMPFD ↗ IBSN ↗ ICCA syndrome ↗ I-cell disease ↗ ICE syndrome ↗ ICF syndrome ↗ Ichthyiosis, Lambert type ↗ Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit ↗ Ichthyosis-cheek-eyebrow syndrome ↗ Ichthyosis congenita - biliary atresia ↗ Ichthyosis congenita, harlequin type ↗ Ichthyosis Curth-Macklin ↗ Ichthyosis exfoliativa ↗ Ichthyosis follicularis - alopecia - photophobia ↗ Ichthyosis follicularis - atrichia - photophobia ↗ Ichthyosis - hepatosplenomegaly - cerebellar degeneration ↗ Ichthyosis - hypotrichosis - sclerosing cholangitis ↗ Ichthyosis hypotrichosis syndrome ↗ Ichthyosis hystrix ↗ Ichthyosis hystrix, Curth-Macklin type ↗ Ichthyosis hystrix gravior ↗ Ichthyosis - intellectual deficit - dwarfism - renal impairment ↗ Ichthyosis - male hypogonadism ↗ Ichthyosis microphthalmos ↗ Ichthyosis - oral and digital anomalies ↗ Ichthyosis prematurity syndrome ↗ Ichthyosis variegata ↗ Ichthyosis with confetti ↗ IDI ↗ idic(15) ↗ Idiopathic achalasia ↗ Idiopathic acquired central diabetes insipidus ↗ Idiopathic acquired sideroblastic anemia ↗ Idiopathic acute eosinophilic pneumonia ↗ Idiopathic acute transverse myelitis ↗ Idiopathic and/or familial pulmonary arterial hypertension ↗ Idiopathic anterior uveitis ↗ Idiopathic aplastic anemia ↗ Idiopathic basal ganglia calcification ↗ Idiopathic bilateral vestibulopathy ↗ Idiopathic bile acid malabsorption ↗ Idiopathic bronchiectasis ↗ Idiopathic CD4 lymphocytopenia ↗ Idiopathic chronic eosinophilic pneumonia ↗ Idiopathic congenital hypothyroidism ↗ Idiopathic copper-associated cirrhosis ↗ Idiopathic cutaneous and mucosal candidiasis ↗ Idiopathic dystonia ↗ Idiopathic eosinophilic myositis ↗ Idiopathic facial palsy ↗ Idiopathic granulomatous mastitis ↗ Idiopathic hydrops fetalis ↗ Idiopathic hypercalciuria ↗ Idiopathic hypereosinophilic syndrome ↗ Idiopathic hypersomnia ↗ Idiopathic hypersomnia with long sleep time ↗ Idiopathic hypersomnia without long sleep time ↗ Idiopathic immunoglobulin deficiency ↗ Idiopathic infantile arterial calcification ↗ Idiopathic infantile hypercalcemia ↗ Idiopathic infection caused by BCG or atypical mycobacteria ↗ Idiopathic infection disseminated by cytomegalovirus ↗ Idiopathic intracranial hypertension ↗ Idiopathic juvenile-onset systemic arthritis ↗ Idiopathic juvenile osteoporosis ↗ Idiopathic lobular panniculitis ↗ Idiopathic malabsorption due to bile acid synthesis defects ↗ Idiopathic massive osteolysis ↗ Idiopathic membranous glomerulonephritis ↗ Idiopathic multicentric osteolysis with or without nephropathy ↗ Idiopathic myelofibrosis ↗ Idiopathic neonatal atrial flutter ↗ Idiopathic nodular panniculitis ↗ Idiopathic nonhistaminergic acquired angioedema ↗ Idiopathic nonhistaminergic angioneurotic edema ↗ Idiopathic obliterative arteriopathy ↗ Idiopathic orthostatic hypotension ↗ Idiopathic panuveitis ↗ Idiopathic PAP ↗ Idiopathic parkinsonism plus dementia ↗ Idiopathic posterior uveitis ↗ Idiopathic pulmonary alveolar proteinosis ↗ Idiopathic pulmonary arterial hypertension ↗ Idiopathic pulmonary fibrosis ↗ Idiopathic pulmonary hemosiderosis ↗ Idiopathic recurrent and disabling cutaneous herpes ↗ Idiopathic recurrent pericarditis ↗ Idiopathic recurrent stupor ↗ Idiopathic relapsing pericarditis ↗ Idiopathic retinal-aneurysms-neuroretinitis syndrome ↗ Idiopathic severe pneumococcemia ↗ Idiopathic short stature ↗ Idiopathic steroid-sensitive nephrotic syndrome ↗ Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation ↗ Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis ↗ Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis ↗ Idiopathic steroid-sensitive nephrotic syndrome with minimal change ↗ Idiopathic syringomyelia ↗ Idiopathic thrombocytopenic purpura ↗ Idiopathic torsion dystonia ↗ Idiopathic torsion dystonia of mixed type ↗ Idiopathic uveal effusion syndrome ↗ Idiopathic ventricular fibrillation, Brugada type ↗ Idiopathic ventricular fibrillation, not Brugada type ↗ IDMDC ↗ Iduronate 2-sulfatase deficiency ↗ Iduronate 2-sulfatase deficiency type A ↗ Iduronate 2-sulfatase deficiency type B ↗ IED ↗ IFAP syndrome ↗ IFD ↗ IgA1 deficiency ↗ IgA2 deficiency ↗ IGDA ↗ IGF-1 deficiency ↗ IgG subclass deficiency with IgA subclass deficiency ↗ IHSC ↗ IIH ↗ Ileal pouch anal anastomosis related faecal incontinence ↗ Illum syndrome ↗ IMAGe syndrome ↗ Imaizumi-Kuroki syndrome ↗ IMAM ↗ Iminoglycinuria ↗ Immotile cilia syndrome ↗ Immotile cilia syndrome, Kartagener type ↗ Immune dysfunction due to T-cell inactivation due to calcium entry defect ↗ Immune-mediated necrotizing myopathy ↗ Immune-mediated protracted diarrhea of infancy ↗ Immune-mediated rippling muscle disease ↗ Immune thrombocytopenia ↗ Immune thrombocytopenic purpura ↗ Immunodeficiency by defective expression of HLA class 1 ↗ Immunodeficiency by defective expression of HLA class 2 ↗ Immunodeficiency - centromeric instability - facial anomalies ↗ Immunodeficiency due to absence of thymus ↗ Immunodeficiency due to a C1, C4, or C2 component complement deficiency ↗ Immunodeficiency due to a C5 to C9 component complement deficiency ↗ Immunodeficiency due to a late component of complements deficiency ↗ Immunodeficiency due to an early component of complement deficiency ↗ Immunodeficiency due to CD25 deficiency ↗ Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency ↗ Immunodeficiency due to selective anti-polysaccharide antibody deficiency ↗ Immunodeficiency - microcephaly - chromosomal instability ↗ Immunodeficiency with factor H anomaly ↗ Immunodeficiency with factor I anomaly ↗ Immunodeficiency with natural-killer cell deficiency ↗ Immunodeficiency with short limb dwarfism ↗ Immunoglobulin A1 deficiency ↗ Immunoglobulin A2 deficiency ↗ Immunoglobulin heavy chain deficiency ↗ Immunoglobulinic amyloidosis ↗ Immunoproliferative small intestinal disease ↗ Immunotactoid glomerulopathy ↗ Immunotactoid or fibrillary glomerulonephritis ↗ Immunotactoid or fibrillary glomerulopathy ↗ Imperforate oropharynx - costo vetebral anomalies ↗ Imploding antrum syndrome ↗ Impossible syndrome ↗ INAD ↗ INAD1 ↗ Inadvertent botulism ↗ Inappropriate antidiuretic hormone secretion syndrome ↗ Incessant infant ventricular tachycardia ↗ Inclusion body beta-thalassemia ↗ Inclusion body fibromatosis ↗ Inclusion body myopathy type 2 ↗ Inclusion body myopathy type 3 ↗ Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ↗ Incomplete situs inversus ↗ Incomplete unilateral aplasia of the Müllerian duct ↗ Incontinentia pigmenti ↗ Incontinentia pigmenti type 1 ↗ Incontinentia pigmenti type 2 ↗ Indeterminate cell histiocytosis ↗ Indian tick typhus ↗ Indolent systemic mastocytosis ↗ Indomethacin embryofetopathy ↗ Infant acute respiratory distress syndrome ↗ Infant ARDS ↗ Infant botulism ↗ Infant epilepsy with migrant focal crisis ↗ Infantile acrodynia ↗ Infantile and juvenile forms of acromegaly ↗ Infantile apnea ↗ Infantile arteriosclerosis ↗ Infantile autosomal recessive medullary cystic kidney disease ↗ Infantile axonal neuropathy ↗ Infantile Bartter syndrome with deafness ↗ Infantile bilateral striatal necrosis ↗ Infantile botulism ↗ Infantile cardiomyopathy with histiocytoid change ↗ Infantile cellular interstitial pneumonitis ↗ Infantile cerebral Gaucher disease ↗ Infantile choroido cerebral calcification syndrome ↗ Infantile convulsions and choreoathetosis ↗ Infantile digital fibromatosis ↗ Infantile dysmorphic sialidosis ↗ Infantile dystonia-parkinsonism ↗ Infantile hypophosphatasia ↗ Infantile juvenile polyposis syndrome ↗ Infantile Krabbe disease ↗ Infantile malignant osteopetrosis ↗ Infantile mercury intoxication ↗ Infantile mercury poisoning ↗ Infantile myofibromatosis ↗ Infantile NCL ↗ Infantile neuroaxonal dystrophy ↗ Infantile neuronal ceroid lipofuscinosis ↗ Infantile Onset Multisystem Inflammatory Disease ↗ Infantile onset panniculitis with uveitis and systemic granulomatosis ↗ Infantile onset spinocerebellar ataxia ↗ infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness ↗ Infantile optic atrophy with chorea and spastic paraplegia ↗ Infantile osteopetrosis with neuroaxonal dysplasia ↗ Infantile phosphoethanolaminuria ↗ Infantile Rathburn disease ↗ Infantile Refsum disease ↗ Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease ↗ Infantile spasms ↗ Infantile spasms - broad thumbs ↗ Infantile spinal muscular atrophy ↗ Infantile striatonigral degeneration ↗ Infantile striatonigral necrosis ↗ Infantile striato thalamic degeneration ↗ Infantile subacute necrotizing encephalopathy ↗ Infantile subacute necrotizing encephalopathy with leukodystrophy ↗ Infantile subacute necrotizing encephalopathy with nephrotic syndrome ↗ Infantile symmetrical thalamic degeneration ↗ Infantile systemic hyalinosis ↗ Infantile thalamic degenerescence ↗ Infantile tibia vara ↗ Infantile xanthomatous cardiomyopathy ↗ Infant intestinal botulism ↗ Infant intestinal toxemia botulism ↗ Infant intestinal toxin-mediated botulism ↗ Infant-like botulism ↗ Infant respiratory distress syndrome ↗ Infectious epithelial keratitis ↗ Inferior caval vein interruption ↗ Inferior vena cava interruption ↗ Inflammatory amyloidosis ↗ Inflammatory myofibroblastic tumor ↗ Inflammatory myoglandular polyps ↗ Inflammatory myopathy with abundant macrophages ↗ Inflammatory pseudotumor of the liver ↗ Infundibulo-neurohypophysitis ↗ Infundibulo-panhypophysitis ↗ Infundibulopelvic stenosis - multicystic kidney ↗ Inhalational botulism ↗ Inhalation anthrax disease ↗ Inhalation botulism ↗ Inherited congenital spastic tetraplegia ↗ Inherited estrogen-associated angioedema ↗ Inherited estrogen-associated angioneurotic edema ↗ Inherited estrogen-dependent angioedema ↗ Inherited estrogen-dependent angioneurotic edema ↗ Inherited predisposition to essential thrombocythemia ↗ Iniencephaly ↗ Inoculation botulism ↗ Insensitivity to pain - anhidrosis ↗ Insulinoma ↗ Insulin-resistance syndrome type A ↗ Insulin-resistance syndrome type B ↗ Insuloma ↗ Intellectual deficit - aphasia - shuffling gait - adducted thumb ↗ Intellectual deficit associated with fragile site FRAXE ↗ Intellectual deficit - athetosis- microphthalmia ↗ Intellectual deficit - balding - patella luxation - acromicria ↗ Intellectual deficit, Birk-Barel type ↗ Intellectual deficit, Buenos-Aires type ↗ Intellectual deficit - cataract - coloboma - kyphosis ↗ Intellectual deficit - cataracts - calcified pinnae - myopathy ↗ Intellectual deficit - cataracts - kyphosis ↗ Intellectual deficit - coloboma - slimness ↗ Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus ↗ Intellectual deficit - dysmorphism - intrauterine growth retardation ↗ Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia ↗ Intellectual deficit - epilepsy - bulbous nose ↗ Intellectual deficit - hypocupremia - hypobetalipoproteinemia ↗ Intellectual deficit - hypoplastic corpus callosum - preauricular tag ↗ Intellectual deficit - hypotonia - facial dysmorphism ↗ Intellectual deficit - hypotonia - skin hyperpigmentation ↗ Intellectual deficit - hypsarrhythmia ↗ Intellectual deficit, Kahrizi type ↗ Intellectual deficit - macrocephaly - coarse facies - hypotonia ↗ Intellectual deficit - microcephaly - phalangeal - facial abnormalities ↗ Intellectual deficit - microcephaly - unusual facies ↗ Intellectual deficit, Mietens-Weber type ↗ Intellectual deficit - myopathy - short stature - endocrine defect ↗ Intellectual deficit - nasal papillomata ↗ Intellectual deficit - polydactyly - uncombable hair ↗ Intellectual deficit - short broad thumbs ↗ Intellectual deficit - short stature - hand contractures - genital anomalies ↗ Intellectual deficit - short stature - hypertelorism ↗ Intellectual deficit - short stature - wedge shaped epiphyses of knees ↗ Intellectual deficit - sparse hair - brachydactyly ↗ Intellectual deficit - spasticity - ectrodactyly ↗ Intellectual deficit - truncal obesity - retinal dystrophy - micropenis ↗ Intellectual deficit - unusual facies ↗ Intellectual deficit-unusual facies, Davis-Lafer type ↗ Intellectual deficit - unusual facies - talipes - hand anomalies ↗ Intellectual deficit, Wolff type ↗ Intellectual deficit, X-linked, Abidi type ↗ Intellectual deficit, X-linked - acromegaly - hyperactivity ↗ Intellectual deficit, X-linked, Armfield type ↗ Intellectual deficit, X-linked, Brooks type ↗ Intellectual deficit, X-linked, Cantagrel type ↗ Intellectual deficit, X-linked - cerebellar hypoplasia ↗ Intellectual deficit, X-linked - choreoathetosis - abnormal behavior ↗ Intellectual deficit, X-linked, Cilliers type ↗ Intellectual deficit, X-linked - corpus callosum agenesis - spastic quadriparesis ↗ Intellectual deficit, X-linked - craniofacioskeletal syndrome ↗ Intellectual deficit, X-linked - cubitus valgus - dysmorphism ↗ Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures ↗ Intellectual deficit, X-linked - dysmorphism - cerebral atrophy ↗ Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism ↗ Intellectual deficit, X-linked, Fichera type ↗ Intellectual deficit, X-linked, Gu type ↗ Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration ↗ Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature ↗ Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior ↗ Intellectual deficit, X-linked - hypotonic face ↗ Intellectual deficit, X-linked, Kroes type ↗ Intellectual deficit, X-linked, Lubs type ↗ Intellectual deficit, X-linked - macrocephaly - macro-orchidism ↗ Intellectual deficit, X-linked, Martinez type ↗ Intellectual deficit, X-linked, Miles-Carpenter type ↗ Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly ↗ Intellectual deficit, X-linked, Nascimento type ↗ Intellectual deficit, X-linked, Pai type ↗ Intellectual deficit, X-linked - plagiocephaly ↗ Intellectual deficit, X-linked, Porteous type ↗ Intellectual deficit, X-linked - precocious puberty - obesity ↗ Intellectual deficit, X-linked - psychosis - macroorchidism ↗ Intellectual deficit, X-linked, Raymond type ↗ Intellectual deficit, X-linked, Raynaud type ↗ Intellectual deficit, X-linked, Reish type ↗ Intellectual deficit, X-linked - retinitis pigmentosa ↗ Intellectual deficit, X-linked, Schimke type ↗ Intellectual deficit, X-linked, Schutz type ↗ Intellectual deficit, X-linked, Seemanova type ↗ Intellectual deficit, X-linked - seizures - psoriasis ↗ Intellectual deficit, X-linked, Shashi type ↗ Intellectual deficit, X-linked - short stature - obesity ↗ Intellectual deficit, X-linked, Shrimpton type ↗ Intellectual deficit, X-linked, Siderius type ↗ Intellectual deficit, X-linked, Snyder type ↗ Intellectual deficit, X-linked, South African type ↗ Intellectual deficit, X-linked - Spastic paraplegia with iron deposits ↗ Intellectual deficit, X-linked - spastic quadriparesis ↗ Intellectual deficit, X-linked, Stevenson type ↗ Intellectual deficit, X-linked, Stocco Dos Santos type ↗ Intellectual deficit, X-linked, Turner type ↗ Intellectual deficit, X-linked, Van Esch type ↗ Intellectual deficit, X-linked, Vitale type ↗ Intellectual deficit, X-linked, Wei type ↗ Intellectual deficit, X-linked, Wilson type ↗ Intellectual deficit, X-linked, Wittner type ↗ Intellectual deficit, X-linked, Wittwer type ↗ Intellectual deficit, X-linked, Zorick type ↗ Interauricular communication ↗ Intercostal nerve syndrome ↗ Interdigitating cell sarcoma ↗ Interdigitating dendritic cell sarcoma ↗ Interferon gamma receptor 1 deficiency ↗ Interleukin-1 receptor antagonist deficiency ↗ Interleukin-2 receptor alpha chain deficiency ↗ Intermediate BCKD deficiency ↗ Intermediate branched-chain ketoacid dehydrogenase deficiency ↗ Intermediate branched-chain ketoaciduria ↗ Intermediate DEND syndrome ↗ Intermediate leucinosis ↗ Intermediate maple syrup urine disease ↗ Intermediate MSUD ↗ Intermediate nemaline myopathy ↗ Intermediate osteopetrosis ↗ Intermediate spinal muscular atrophy ↗ Intermittent BCKD deficiency ↗ Intermittent branched-chain ketoacid dehydrogenase deficiency ↗ Intermittent branched-chain ketoaciduria ↗ Intermittent leucinosis ↗ Intermittent maple syrup urine disease ↗ Intermittent MSUD ↗ Intermittent neutropenia ↗ Internal carotid agenesis ↗ Interstitial cystitis ↗ Interstitial granulomatous dermatitis with arthritis ↗ Interventricular communication ↗ Interventricular septum aneurysm ↗ Intestinal botulism ↗ Intestinal colonization botulism ↗ Intestinal epithelial dysplasia ↗ Intestinal hypomagnesemia with secondary hypocalcemia ↗ Intestinal lipodystrophy ↗ Intestinal lipophagic granulomatosis ↗ Intestinal lymphangiectasia ↗ Intestinal polyposis - cutaneous pigmentation syndrome ↗ Intestinal T-cell lymphoma ↗ Intestinal toxemia botulism ↗ Intestinal toxin-mediated botulism ↗ Intoxication botulism ↗ Intracranial aneurysms - multiple congenital anomalies ↗ Intracranial arteriovenous malformation ↗ Intracranial embryonal carcinoma ↗ Intracranial endodermal sinus tumor ↗ Intracranial germinoma ↗ Intracranial yolk sac tumor ↗ Intractable diarrhea - choanal atresia - eye anomalies ↗ Intractable diarrhea of infancy ↗ Intrahepatic cholestasis of pregnancy ↗ Intralobar congenital bronchopulmonary sequestration ↗ Intralobar congenital pulmonary sequestration ↗ Intramural coronary arterial course ↗ Intraneural perineurioma ↗ Intraocular medulloepithelioma ↗ Intraosseous hemangioma ↗ Intrauterine adhesions ↗ Intrauterine growth retardation - mandibular malar hypoplasia ↗ Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies ↗ Intravascular large B-cell lymphoma ↗ Intrinsic factor deficiency ↗ Invasive infections due to Vancomycin Resistant Enterococci ↗ Invasive infections due to VRE ↗ Invasive mole ↗ Inv dup(15) ↗ Inverse Marcus-Gunn phenomenon ↗ Inverted smile - neurogenic bladder ↗ IOMID syndrome ↗ IOSCA ↗ IPAH ↗ IPEX ↗ IPS ↗ IPSID ↗ IRAK4 deficiency ↗ IRIDA syndrome ↗ Iridocorneal endothelial syndrome ↗ Iris coloboma with ptosis - intellectual deficit ↗ Iris dysplasia - hypertelorism - deafness ↗ Iris melanoma ↗ Iron-refractory iron deficiency anemia ↗ Irons-Bhan syndrome ↗ IRVAN syndrome ↗ Isaacs-Mertens syndrome ↗ Isaac's syndrome ↗ Ischemia/perfusion injury associated with solid organ transplantation procedure ↗ Ischiopatellar dysplasia ↗ Ischio-spinal dysostosis ↗ Ischio-vertebral dysplasia ↗ Ischio-vertebral syndrome ↗ Isobutyric aciduria ↗ Isobutyryl-CoA dehydrogenase deficiency ↗ Isochromosome 12p mosaicism ↗ Isochromosome 12p syndrome ↗ Isochromosome 18p ↗ Isochromosome 21 ↗ Isochromosome 5p ↗ Isochromosome 9p ↗ Isochromosome Y ↗ Isochromosomy Yp ↗ Isochromosomy Yq ↗ ISOD ↗ Isodicentric 15 chromosome ↗ Iso-Kikuchi syndrome ↗ Isolated acute necrotizing encephalopathy ↗ Isolated agammaglobulinemia ↗ Isolated amastia ↗ Isolated amyelia ↗ Isolated ANE ↗ Isolated anencephaly/exencephaly ↗ Isolated angiitis of the central nervous system ↗ Isolated aniridia ↗ Isolated ankyloblepharon filiforme adnatum ↗ Isolated anophthalmia - microphthalmia ↗ Isolated anorectal malformation ↗ Isolated anterior cervical hypertrichosis ↗ Isolated apertura pyriformis stenosis ↗ Isolated arhinencephaly ↗ Isolated ATP synthase deficiency ↗ Isolated autosomal dominant hypomagnesemia, Glaudemans type ↗ Isolated bilateral hemispheric cerebellar hypoplasia ↗ Isolated brachycephaly ↗ Isolated breast aplasia ↗ Isolated cerebellar hypoplasia/agenesis ↗ Isolated cerebellar vermis agenesis ↗ Isolated cerebellar vermis hypoplasia ↗ Isolated cleft lip ↗ Isolated cloverleaf skull syndrome ↗ Isolated coenzyme Q-cytochrome C reductase deficiency ↗ Isolated congenital acropachy ↗ Isolated congenital alacrima ↗ Isolated congenital anosmia ↗ Isolated congenital auditory ossicle malformation ↗ Isolated congenital controlateral synkinesia ↗ Isolated congenital convex foot ↗ Isolated congenital digital clubbing ↗ Isolated congenital gonadotropin deficiency ↗ Isolated congenital hypoglossia/aglossia ↗ Isolated congenitally uncorrected transposition of the great arteries ↗ Isolated congenitally uncorrected transposition of the great vessels ↗ Isolated congenital megalocornea ↗ Isolated congenital mirror movements ↗ Isolated congenital nail clubbing ↗ Isolated congenital nasal pyriform aperture stenosis ↗ Isolated congenital sclerocornea ↗ Isolated congenital vertical talus ↗ Isolated CoQ-cytochrome C reductase deficiency ↗ Isolated COX deficiency ↗ Isolated cryptophthalmia ↗ Isolated cytochrome C oxidase deficiency ↗ Isolated Dandy-Walker malformation ↗ Isolated Dandy-Walker malformation with hydrocephalus ↗ Isolated Dandy-Walker malformation without hydrocephalus ↗ Isolated delta-SPD ↗ Isolated delta-storage pool disease ↗ Isolated dense-SPD ↗ Isolated dense-storage pool disease ↗ Isolated distichiasis ↗ Isolated dolichocephaly ↗ Isolated dominant hypomagnesemia ↗ Isolated ectopia lentis ↗ Isolated facial myokymia ↗ Isolated focal cortical dysplasia ↗ Isolated focal cortical dysplasia type I ↗ Isolated focal cortical dysplasia type Ia ↗ Isolated focal cortical dysplasia type Ib ↗ Isolated focal cortical dysplasia type Ic ↗ Isolated focal cortical dysplasia type II ↗ Isolated focal cortical dysplasia type IIa ↗ Isolated focal cortical dysplasia type IIb ↗ Isolated follicle stimulating hormone deficiency ↗ Isolated FSH deficiency ↗ Isolated growth hormone deficiency type IA ↗ Isolated growth hormone deficiency type IB ↗ Isolated growth hormone deficiency type II ↗ Isolated growth hormone deficiency type III ↗ Isolated hereditary xanthinuria ↗ Isolated humeroradial synostosis ↗ Isolated IgG subclass deficiency ↗ Isolated Klippel-Feil syndrome ↗ Isolated lissencephaly type 1 without known genetic defects ↗ Isolated macrencephaly ↗ Isolated megalencephaly ↗ Isolated mesenteric lipodystrophy ↗ Isolated mitochondrial neurosensory deafness ↗ Isolated mitochondrial respiratory chain complex I deficiency ↗ Isolated mitochondrial respiratory chain complex II deficiency ↗ Isolated mitochondrial respiratory chain complex III deficiency ↗ Isolated mitochondrial respiratory chain complex IV deficiency ↗ Isolated mitochondrial respiratory chain complex V deficiency ↗ Isolated mitochondrial sensorineural deafness ↗ Isolated NADH-coenzyme Q reductase deficiency ↗ Isolated NADH-CoQ reductase deficiency ↗ Isolated NADH-ubiquinone reductase deficiency ↗ Isolated nasal pyriform aperture hypoplasia ↗ Isolated nonketotic hyperglycinemia ↗ Isolated nonketotic hyperglycinemia type 1 ↗ Isolated nonketotic hyperglycinemia type 2 ↗ Isolated optic nerve hypoplasia ↗ Isolated osteopoikilosis ↗ Isolated oxycephaly ↗ Isolated partial cerebellar vermis agenesis ↗ Isolated partial vaginal agenesis ↗ Isolated patella aplasia-hypoplasia ↗ Isolated Pierre Robin sequence ↗ Isolated Pierre Robin syndrome ↗ Isolated plagiocephaly ↗ Isolated plasmalogenes synthesis deficiency ↗ Isolated polythelia ↗ Isolated postlingual genetic deafness ↗ Isolated prelingual genetic deafness ↗ Isolated prothyroliberin deficiency ↗ Isolated protirelin deficiency ↗ Isolated pulmonary capillaritis ↗ Isolated pure microphthalmia ↗ Isolated scaphocephaly ↗ Isolated spina bifida ↗ Isolated sternocostoclavicular hyperostosis ↗ Isolated succinate-coenzyme Q reductase deficiency ↗ Isolated succinate-CoQ reductase deficiency ↗ Isolated succinate-ubiquinone reductase deficiency ↗ Isolated sulfite oxidase deficiency ↗ Isolated thyroid-stimulating hormone deficiency ↗ Isolated thyroliberin deficiency ↗ Isolated thyrotropin-releasing factor deficiency ↗ Isolated thyrotropin-releasing hormone deficiency ↗ Isolated total cerebellar vermis agenesis ↗ Isolated trehalose intolerance ↗ Isolated TRF deficiency ↗ Isolated TRH deficiency ↗ Isolated trigonocephaly ↗ Isolated TSH deficiency ↗ Isolated TSH-releasing factor deficiency ↗ Isolated ubiquinone-cytochrome C reductase deficiency ↗ Isolated unilateral hemispheric cerebellar hypoplasia ↗ Isolated vitamin E deficiency ↗ Isolated xanthine dehydrogenase (XDH) deficiency ↗ Isolated xanthine oxidase (XO) deficiency ↗ Isolated xanthine oxidoreductase (XOR) deficiency ↗ Isosporiasis ↗ Isotretinoin embryopathy ↗ Isotretinoin-like syndrome ↗ Isotretinoin syndrome ↗ Isovaleric acid CoA dehydrogenase deficiency ↗ Isovaleric acidemia ↗ Itin syndrome ↗ Ito hypomelanosis ↗ ITP ↗ IVC interruption ↗ Ivemark syndrome ↗ IVIC syndrome ↗ IWC ↗